Canonical Allele Identifier: CA9363874

Gene: PEPD

Linked Data

• dbSNP Id: rs779654734
• ExAC: 19:33878360 T / G
• gnomAD v2: 19-33878360-T-G
• gnomAD v3: 19-33387454-T-G
• gnomAD v4: 19-33387454-T-G
• MyVariant Identifiers: chr19:g.33878360T>G (hg19) ; chr19:g.33387454T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387454T>G , CM000681.2:g.33387454T>G	GRCh38
NC_000019.9:g.33878360T>G , CM000681.1:g.33878360T>G	GRCh37
NC_000019.8:g.38570200T>G	NCBI36
NG_013358.1:g.139440A>C
NG_013358.2:g.139440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1438A>C	ENSP00000468516.4:p.Thr480Pro
ENST00000651901.2:c.1462A>C	ENSP00000498922.2:p.Thr488Pro
ENST00000698359.1:c.1327A>C	ENSP00000513682.1:p.Thr443Pro
ENST00000698360.1:c.1423A>C	ENSP00000513683.1:p.Thr475Pro
ENST00000698361.1:c.1488A>C	ENSP00000513684.1:p.Ter496Cys
ENST00000698362.1:c.*509A>C	ENSP00000513685.1:n.*509A>C
ENST00000698426.1:c.1051A>C	ENSP00000513713.1:p.Thr351Pro
ENST00000698427.1:c.1414A>C	ENSP00000513714.1:p.Thr472Pro
ENST00000698428.1:c.1051A>C	ENSP00000513715.1:p.Thr351Pro
ENST00000698429.1:n.1255A>C
ENST00000698430.1:c.1622A>C
ENST00000698431.1:c.1109A>C	ENSP00000513717.1:n.1109A>C
ENST00000698432.1:c.1181A>C
ENST00000698433.1:n.834A>C
ENST00000244137.12:c.1372A>C MANE Select	ENSP00000244137.5:p.Thr458Pro
ENST00000588328.6:c.1427A>C
ENST00000651901.1:c.1458A>C
ENST00000244137.11:c.1372A>C	ENSP00000244137.5:p.Thr458Pro
ENST00000397032.8:c.1249A>C	ENSP00000380226.3:p.Thr417Pro
ENST00000436370.7:c.1180A>C	ENSP00000391890.2:p.Thr394Pro
ENST00000589598.5:n.97A>C
ENST00000591968.1:n.444A>C
ENST00000593085.1:n.1259A>C
NM_000285.3:c.1372A>C	NP_000276.2:p.Thr458Pro
NM_001166056.1:c.1249A>C	NP_001159528.1:p.Thr417Pro
NM_001166057.1:c.1180A>C	NP_001159529.1:p.Thr394Pro
NM_000285.4:c.1372A>C MANE Select	NP_000276.2:p.Thr458Pro
NM_001166056.2:c.1249A>C	NP_001159528.1:p.Thr417Pro
NM_001166057.2:c.1180A>C	NP_001159529.1:p.Thr394Pro